ANKH

Ankylosis, progressive homolog (mouse)
Identifiers
Symbols	ANKH ; ANK; CCAL2; CMDJ; CPPDD; FLJ27166; HANK; MANK
External IDs	Template:OMIM5 Template:MGI HomoloGene: 10664
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Ankylosis, progressive homolog (mouse), also known as ANKH, is a human gene.

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Mutation at the mouse 'progressive ankylosis' (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.

Further reading

• Williams CJ (2003). "Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene". Current opinion in rheumatology. 15 (3): 326–31. PMID 12707589.
• Netter P, Bardin T, Bianchi A; et al. (2005). "The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease". Joint Bone Spine. 71 (5): 365–8. doi:10.1016/j.jbspin.2004.01.011. PMID 15474385.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
• Hughes AE, McGibbon D, Woodward E; et al. (1996). "Localisation of a gene for chondrocalcinosis to chromosome 5p". Hum. Mol. Genet. 4 (7): 1225–8. PMID 8528213.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nürnberg P, Tinschert S, Mrug M; et al. (1997). "The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene". Am. J. Hum. Genet. 61 (4): 918–23. PMID 9382103.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andrew LJ, Brancolini V, de la Pena LS; et al. (1999). "Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease". Am. J. Hum. Genet. 64 (1): 136–45. PMID 9915952.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rojas K, Serrano de la Peña L, Gallardo T; et al. (2000). "Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1". Genomics. 62 (2): 177–83. doi:10.1006/geno.1999.5997. PMID 10610710.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ho AM, Johnson MD, Kingsley DM (2000). "Role of the mouse ank gene in control of tissue calcification and arthritis". Science. 289 (5477): 265–70. PMID 10894769.CS1 maint: Multiple names: authors list (link)
• Nagase T, Kikuno R, Nakayama M; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. PMID 10997877.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nürnberg P, Thiele H, Chandler D; et al. (2001). "Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia". Nat. Genet. 28 (1): 37–41. doi:10.1038/88236. PMID 11326272.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reichenberger E, Tiziani V, Watanabe S; et al. (2001). "Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK". Am. J. Hum. Genet. 68 (6): 1321–6. PMID 11326338.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nelson PS, Clegg N, Arnold H; et al. (2002). "The program of androgen-responsive genes in neoplastic prostate epithelium". Proc. Natl. Acad. Sci. U.S.A. 99 (18): 11890–5. doi:10.1073/pnas.182376299. PMID 12185249.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pendleton A, Johnson MD, Hughes A; et al. (2002). "Mutations in ANKH cause chondrocalcinosis". Am. J. Hum. Genet. 71 (4): 933–40. PMID 12297987.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Williams CJ, Zhang Y, Timms A; et al. (2002). "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH". Am. J. Hum. Genet. 71 (4): 985–91. PMID 12297989.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tsui FW, Tsui HW, Cheng EY; et al. (2003). "Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis". Arthritis Rheum. 48 (3): 791–7. doi:10.1002/art.10844. PMID 12632434.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Williams CJ, Pendleton A, Bonavita G; et al. (2003). "Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease". Arthritis Rheum. 48 (9): 2627–31. doi:10.1002/art.11133. PMID 13130483.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)